Gaucher disease is a rare lysosomal storage disorder caused by the deficiency of the enzyme glucocerebrosidase (GCB). Due to the deficiency of functional GCB, glucocerebroside accumulates within macrophages leading to cellular engorgement, organomegaly, and organ system dysfunction. The purpose of this study is to evaluate the safety and efficacy of every other week dosing of GA-GCB (velaglucerase alfa) in participants with type 1 Gaucher disease who were previously treated with imiglucerase.
Type 1 Gaucher disease, the most common form, accounts for more than 90% of all cases and does not involve the CNS. Typical manifestations of type 1 Gaucher disease include hepatomegaly, splenomegaly, thrombocytopenia, bleeding tendencies, anemia, hypermetabolism, skeletal pathology, growth retardation, pulmonary disease, and decreased quality of life. Gene-Activated® human glucocerebrosidase (GA-GCB; velaglucerase alfa) is produced in a continuous human cell line using proprietary gene-activation technology and has an identical amino acid sequence to the naturally occurring human enzyme. GA-GCB contains terminal mannose residues that target the enzyme to the macrophages-the primary target cells in Gaucher disease. This study was designed to determine the safety of GA-GCB in men, women, and children with Type 1 Gaucher disease who were previously treated with imiglucerase. Each participant's duration of treatment will be 12 months.
Study Type
INTERVENTIONAL
Allocation
NA
Purpose
TREATMENT
Masking
NONE
Enrollment
40
15-60 U/kg, every other week via intravenous infusion
Regional Metabolic Center
Los Angeles, California, United States
Children's Hospital Oakland
Oakland, California, United States
Emory University
Participants Who Experienced at Least One Adverse Event
Safety was assessed throughout the study by assessments including adverse events, concomitant medication use, and vital signs. Additional safety assessments, including 12-lead ECGs, physical examinations, clinical laboratory tests and determination of the presence of anti-velaglucerase alfa antibodies. Refer to Adverse event section for further details.
Time frame: Week 53
Change From Baseline to Week 53 in Hemoglobin Concentration
Time frame: Week 53
Percent Change From Baseline to Week 53 in Platelet Count
Time frame: Week 53
Percent Change From Baseline to Week 51 in Normalized Liver Volume
Liver volume has been normalized for percentage (%) of body weight. Liver size relative to body weight= (Liver volume \[cc\]/Body weight \[kg\])\*100
Time frame: Week 51
Percent Change From Baseline to Week 51 in Normalized Spleen Volume
Spleen volume has been normalized for percentage (%) of body weight. Spleen size relative to body weight= (Spleen volume \[cc\]/Body weight \[kg\])\*100
Time frame: Week 51
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